An LRP5 receptor with internal deletion in hyperparathyroid tumors with implications for deregulated WNT/β-catenin signaling

PLoS Medicine

Volumn 4, Issue 11, 2007, Pages 1829-1841

  Björklund, Peyman ^a   Åkerström, Göran ^a   Westin, Gunnar ^a  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CATENIN; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; MYC PROTEIN; WNT PROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; LRP5 PROTEIN, HUMAN; LRP5 PROTEIN, MOUSE; WNT3 PROTEIN; WNT3 PROTEIN, HUMAN; WNT3 PROTEIN, MOUSE;

ANIMAL MODEL; ARTICLE; CARCINOGENESIS; CELL GROWTH; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; HYPERTHYROIDISM; MAJOR CLINICAL STUDY; MOUSE; NONHUMAN; PARATHYROID TUMOR; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; ANIMAL; BIOLOGICAL MODEL; BIOSYNTHESIS; CANCER TRANSPLANTATION; GENE DELETION; GENETICS; METABOLISM; MOUSE MUTANT; SIGNAL TRANSDUCTION; WESTERN BLOTTING;

ANIMALS; BETA CATENIN; BLOTTING, WESTERN; FEMALE; GENE DELETION; HUMANS; LDL-RECEPTOR RELATED PROTEINS; LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN-5; MICE; MICE, SCID; MODELS, BIOLOGICAL; NEOPLASM TRANSPLANTATION; PARATHYROID NEOPLASMS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION; WNT PROTEINS; WNT3 PROTEIN;

EID: 36849014861     PISSN: 15491277     EISSN: 15491676     Source Type: Journal    
DOI: 10.1371/journal.pmed.0040328     Document Type: Article

References (41)

1. Marx SJ (2000) Hyperparathyroid and hypoparathyroid disorders. N Engl J Med 343: 1863-1875.
2. Arnold A, Shattuck TM, Mallya SM, Krebs LJ, Costa J, et al. (2002) Molecular pathogenesis of primary hyperparathyroidism. J Bone Miner Res 17: N30-N36.
3. Åkerström G, Hellman P (2004) Primary hyperparathyroidism. Curr Opin Oncol 16: 1-7.
4. Åkerström G, Hellman P, Hessman O, Segersten U, Westin G (2005) Parathyroid glands in calcium regulation and human disease. Ann N Y Acad Sci 1040: 53-58.
5. Björklund P, Åkerström G, Westin G (2007) Accumulation of nonphosphorylated beta-catenin and c-myc in primary and uremic secondary hyperparathyroid tumors. J Clin Endocrinol Metab 92: 338-344.
6. van de Wetering M, Sancho E, Verweij C, de Lau W, Oving I, et al. (2002) The beta-catenin/TCF-4 complex imposes a crypt progenitor phenotype on colorectal cancer cells. Cell 111: 241-250.
7. Meniel VS, Muncan V, Phesse TJ, Wilkins JA, et al. (2007) Myc deletion rescues Apc deficiency in the small intestine. Nature 446: 676-679.
8. Björklund P, Åkerström G, Westin G (2007) Activated beta-catenin in the novel human parathyroid tumor cell line sHPT-1. Biochem Biophys Res Commun 352: 532-536.
9. Imanishi Y, Hosokawa Y, Yoshimoto K, Schpani E, Mallya S, et al. (2001) Primary hyperparathyroidism caused by parathyroid-targeted overexpression of cyclin D1 in transgenic mice. J Clin Invest 107: 1093-1102.
10. Motokura T, Bloom T, Kim HG, Juppner H, Ruderman JV, et al. (1991) A novel cyclin encoded by a bcl1-linked candidate oncogene. Nature 350: 512-515.
11. Sansom OJ, Reed KR, van de Wetering M, Muncan V, Winton DJ, et al. (2005) Cyclin D1 is not an immediate target of beta-catenin following Apc loss in the intestine. J Biol Chem 280: 28463-28467.
12. Polakis P (1999) The oncogenic activation of beta-catenin. Curr Opin Genet Dev 9: 15-21.
13. Lustig B, Behrens J (2003) The Wnt signaling pathway and its role in tumor development. J Cancer Res Clin Oncol 129: 199-221.
14. Giles RH, van Es JH, Clevers H (2003) Caught up in a Wnt storm: Wnt signaling in cancer. Biochim Biophys Acta 1653: 1-24.
15. Moon RT, Kohn AD, DeFerrari GV, Kaykas A (2004) WNT and beta-catenin signalling: diseases and therapies. Nat Rev Genet 5: 689-701.
16. Tamai K, Semenov M, Kato Y, Spokony R, Liu C, et al. (2000) LDL-receptor-related proteins in Wnt signal transduction. Nature 407: 530-535.
17. Pinson KI, Brennan J, Monkley S, Avery BJ, Skarnes WC (2000) An LDL-receptor-related protein mediates Wnt signalling in mice. Nature 407: 535-538.
18. Wehrli M, Dougan ST, Caldwell K, O'Keefe L, Schwartz S, et al. (2000) Arrow encodes an LDL-receptor-related protein essential for Wingless signalling. Nature 407: 527-530.
19. Luo W, Peterson A, Garcia BA, Coombs G, Kofahl B, et al. (2007) Protein phosphatase 1 regulates assembly and function of the beta-catenin degradation complex. EMBO J 26: 1511-1521.
20. Mao J, Wang J, Liu B, Pan W, Farr GH 3rd, et al. (2001) Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway. Mol Cell 7: 801-809.
21. Winn RA, Marek L, Han SY, Rodriguez K, Rodriguez N, et al. (2005) Restoration of Wnt-7a expression reverses non-small cell lung cancer cellular transformation through frizzled-9-mediated growth inhibition and promotion of cell differentiation. J Biol Chem 280: 19625-19634.
22. He TC, Sparks AB, Rago C, Hermeking H, Zawel L, et al. (1998) Identification of c-MYC as a target of the APC pathway. Science 281: 1509-1512.
23. Knutson A, Castano E, Oelgeschlager T, Roeder RG, Westin G (2000) Downstream promoter sequences facilitate the formation of a specific transcription factor IID-promoter complex topology required for efficient transcription from the megalin/low density lipoprotein receptor-related protein 2 promoter. J Biol Chem 275: 14190-14197.
24. Sharma M, Chuang WW, Sun Z (2002) Phosphatidylinositol 3-kinase/Akt stimulates androgen pathway through GSK3beta inhibition and nuclear beta-catenin accumulation. J Biol Chem 277: 30935-30941.
25. van Noort M, Meeldijk J, van der Zee R, Destree O, Clevers H (2002) Wnt signaling controls the phosphorylation status of beta-catenin. J Biol Chem 277: 17901-17905.
26. Chen H, Lin RJ, Xie W, Wilpitz D, Evans RM (1999) Regulation of hormone-induced histone hyperacetylation and gene activation via acetylation of an acetylase. Cell 98: 675-686.
27. Workman P, Balmain A, Hickman JA, McNally NJ, Rohas AM, et al. (1988) UKCCCR guidelines for the welfare of animals in experimental neoplasia. Lab Anim 22: 195-201.
28. Jeon H, Meng W, Takagi J, Eck MJ, Springer TA, et al. (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair. Nat Struct Biol 8: 499-504.
29. Takagi J, Yang Y, Liu J, Wang J, Springer TA (2003) Complex between nidogen and laminin fragments reveals a paradigmatic beta-propeller interface. Nature 424: 969-974.
30. Patel AA, Steitz JA (2003) Splicing double: Insights from the second spliceosome. Nat Rev Mol Cell Biol 4: 960-970.
31. Zhang Y, Wang Y, Li X, Zhang J, Mao J, et al. (2004) The LRP5 high-bonemass G171V mutation disrupts LRP5 interaction with Mesd. Mol Cell Biol 24: 4677-4684.
32. Bartlett DW, Davis ME (2006) Insights into the kinetics of siRNA-mediated gene silencing from live-cell and live-animal bioluminescent imaging. Nucl Acids Res 34: 322-333.
33. Costa-Guda J, Arnold A (2007) Absence of stabilizing mutations of β-catenin encoded by CTNNB1 exon 3 in a large series of sporadic parathyroid adenomas. J Clin Endocrinol Metab 92: 1564-1566.
34. Ikeda S, Ishizaki Y, Shimizu Y, Fujimori M, Ojima Y, et al. (2002) Immunohistochemistry of cyclin D1 and b-catenin, and mutational analysis of exon 3 of β-catenin gene in parathyroid tumors. Int J Oncol 20: 463-466.
35. Simonds WF (2007) Ruling out a suspect: the role of beta-catenin mutation in benign parathyroid neoplasia. J Clin Endocrinol Metab 92: 1235-1236.
36. Levasseur R, Lacombe D, de Vernejoul MC (2005) LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. Joint Bone Spine 72: 207-214.
37. Ai M, Heeger S, Bartels CF, Schelling DK (2005) Osteoporosis-Pseudoglioma Collaborative Group. Clinical and molecular findings in osteoporosis- pseudoglioma syndrome. Am J Hum Genet 77: 741-753.
38. Wang Z (2003) Computational analysis and experimental validation of tumor-associated alternative RNA splicing in human cancer. Cancer Res 63: 655-657.
39. Kalnina Z, Zayakin P, Silina K, Line A (2005) Alterations of pre-mRNA splicing in cancer. Genes Chrom Cancer 42: 342-357.
40. Lukas J, Gao DQ, Keshmeshian M, Wen WH, Tsao-Wei D, et al. (2001) Alternative and aberrant messenger RNA splicing of the mdm2 oncogene in invasive breast cancer. Cancer Res 61: 3212-3219.
41. Karni R, de Stanchina E, Lowe SW, Sinha R, Mu D, et al. (2007) The gene encoding the splicing factor SF2/ASF is a proto-oncogene. Nat Struct Mol Biol 14: 185-193.